Paralogue Annotation for SCN5A residue 1403

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1403
Reference Amino Acid: D - Aspartate
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1403

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AD1416GDravet syndromeHigh9 18930999
SCN1AD1416HDravet syndromeHigh9 23895530

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.



SCN5AYTIVNNKSQCESLNLTGE--LYWTKVKVNF>D<NVGAGYLALLQVATFKGWMDIMYAAVDSRG1433
SCN1AIEDVNNHTDCLKLIERNET-ARWKNVKVNF>D<NVGFGYLSLLQVATFKGWMDIMYAAVDSRN1446
SCN2AVSVVNNYSECKALIESNQT-ARWKNVKVNF>D<NVGLGYLSLLQVATFKGWMDIMYAAVDSRN1436
SCN3AISDVNNLSDCQALGK--Q--ARWKNVKVNF>D<NVGAGYLALLQVATFKGWMDIMYAAVDSRD1431
SCN4AISEVNNKSECESLMHTGQ--VRWLNVKVNY>D<NVGLGYLSLLQVATFKGWMDIMYAAVDSRE1258
SCN7ASSEVMNKSRCESLLFNES--MLWENAKMNF>D<NVGNGFLSLLQVATFNGWITIMNSAIDSVA1156
SCN8AIEDVNNKTECEKLMEGNNTEIRWKNVKINF>D<NVGAGYLALLQVATFKGWMDIMYAAVDSRK1427
SCN9AASQVPNRSECFALMNVSQN-VRWKNLKVNF>D<NVGLGYLSLLQVATFKGWTIIMYAAVDSVN1409
SCN10ALSIVNNKSDCKIQNSTGS--FFWVNVKVNF>D<NVAMGYLALLQVATFKGWMDIMYAAVDSRE1381
SCN11AYTIITNKSQCESGN------FSWINQKVNF>D<NVGNAYLALLQVATFKGWMDIIYAAVDSTE1271
CACNA1AKYLLYEKNEVK----AR--DREWKKYEFHY>D<NVLWALLTLFTVSTGEGWPQVLKHSVDATF1474
CACNA1BQYLDYEKEEVE----AQ--PRQWKKYDFHY>D<NVLWALLTLFTVSTGEGWPMVLKHSVDATY1380
CACNA1CNYITYKDGEVDHP-IIQ--PRSWENSKFDF>D<NVLAAMMALFTVSTFEGWPELLYRSIDSHT1129
CACNA1DLFILYKDGDVDSP-VVR--ERIWQNSDFNF>D<NVLSAMMALFTVSTFEGWPALLYKAIDSNG1135
CACNA1ENYVDHEKNKME----VK--GREWKRHEFHY>D<NIIWALLTLFTVSTGEGWPQVLQHSVDVTE1386
CACNA1FSFLVYPDGDVSRP-LVR--ERLWVNSDFNF>D<NVLSAMMALFTVSTFEGWPALLYKAIDAYA1100
CACNA1GTRNITNKSDCA----EA--SYRWVRHKYNF>D<NLGQALMSLFVLASKDGWVDIMYDGLDAVG1500
CACNA1HTRNISTKAQCR----AA--HYRWVRRKYNF>D<NLGQALMSLFVLSSKDGWVNIMYDGLDAVG1518
CACNA1ITRNITNRSDCM----AA--NYRWVHHKYNF>D<NLGQALMSLFVLASKDGWVNIMYNGLDAVA1394
CACNA1SYYYVYKDGDPMQI-ELR--HREWVHSDFHF>D<NVLSAMMSLFTVSTFEGWPQLLYKAIDSNA1028
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1403 for SCN5A.